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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 8-650729-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=650729&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 650729,
"ref": "A",
"alt": "G",
"effect": "3_prime_UTR_variant",
"transcript": "XM_047421400.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERICH1",
"gene_hgnc_id": 27234,
"hgvs_c": "c.*523T>C",
"hgvs_p": null,
"transcript": "XM_047421400.1",
"protein_id": "XP_047277356.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERICH1",
"gene_hgnc_id": 27234,
"hgvs_c": "c.*523T>C",
"hgvs_p": null,
"transcript": "XM_047421404.1",
"protein_id": "XP_047277360.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 432,
"cds_start": -4,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERICH1",
"gene_hgnc_id": 27234,
"hgvs_c": "c.1258+17869T>C",
"hgvs_p": null,
"transcript": "NM_001303100.2",
"protein_id": "NP_001290029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": -4,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ERICH1",
"gene_hgnc_id": 27234,
"hgvs_c": "c.976+17869T>C",
"hgvs_p": null,
"transcript": "ENST00000522706.5",
"protein_id": "ENSP00000428635.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": -4,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ERICH1",
"gene_hgnc_id": 27234,
"hgvs_c": "n.232+17869T>C",
"hgvs_p": null,
"transcript": "ENST00000523415.5",
"protein_id": "ENSP00000430296.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ERICH1",
"gene_hgnc_id": 27234,
"hgvs_c": "c.1442-9895T>C",
"hgvs_p": null,
"transcript": "XM_047421393.1",
"protein_id": "XP_047277349.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 629,
"cds_start": -4,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERICH1",
"gene_hgnc_id": 27234,
"hgvs_c": "c.1259-9895T>C",
"hgvs_p": null,
"transcript": "XM_006716234.5",
"protein_id": "XP_006716297.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": -4,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ERICH1",
"gene_hgnc_id": 27234,
"hgvs_c": "c.1442-9895T>C",
"hgvs_p": null,
"transcript": "XM_047421394.1",
"protein_id": "XP_047277350.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 565,
"cds_start": -4,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ERICH1",
"gene_hgnc_id": 27234,
"hgvs_c": "c.1442-9895T>C",
"hgvs_p": null,
"transcript": "XM_047421395.1",
"protein_id": "XP_047277351.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 559,
"cds_start": -4,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ERICH1",
"gene_hgnc_id": 27234,
"hgvs_c": "c.1442-9895T>C",
"hgvs_p": null,
"transcript": "XM_047421396.1",
"protein_id": "XP_047277352.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 556,
"cds_start": -4,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERICH1",
"gene_hgnc_id": 27234,
"hgvs_c": "c.1259-5483T>C",
"hgvs_p": null,
"transcript": "XM_047421398.1",
"protein_id": "XP_047277354.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 501,
"cds_start": -4,
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"cds_length": 1506,
"cdna_start": null,
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"cdna_length": 2247,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
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"gene_symbol": "ERICH1",
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"hgvs_c": "c.1441+17869T>C",
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"transcript": "XM_047421399.1",
"protein_id": "XP_047277355.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 5,
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"gene_symbol": "ERICH1",
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"hgvs_c": "c.1258+17869T>C",
"hgvs_p": null,
"transcript": "XM_047421403.1",
"protein_id": "XP_047277359.1",
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"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "ERICH1",
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"hgvs_c": "n.1505-9895T>C",
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"transcript": "XR_007060706.1",
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],
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
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"gene_symbol": "ERICH1",
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},
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],
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"gene_symbol": "ERICH1",
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},
{
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"intron_variant"
],
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"intron_rank": 5,
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"gene_symbol": "ERICH1",
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"hgvs_c": "n.1321+17869T>C",
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"transcript": "XR_007060710.1",
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},
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],
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"gene_symbol": "ERICH1",
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},
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],
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},
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],
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"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERICH1",
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}
],
"gene_symbol": "ERICH1",
"gene_hgnc_id": 27234,
"dbsnp": "rs4735895",
"frequency_reference_population": 0.67578334,
"hom_count_reference_population": 36075,
"allele_count_reference_population": 102788,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.675783,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 102788,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 36075,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9599999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.96,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.469,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XM_047421400.1",
"gene_symbol": "ERICH1",
"hgnc_id": 27234,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*523T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}